Overview
Jefferson Doyle, M.D., Ph.D., M.H.S. specializes in pediatric ophthalmology and genetic eye diseases and is the recipient of the 2023 Andreas C. Dracopoulos & Daniel Finkelstein, M.D. Rising Professorship in Ophthalmology. His main focus is pediatric and juvenile forms of cataracts, glaucoma, anterior segment dysgenesis, and ectopia lentis. His genetics interests include Marfan syndrome and related connective tissue disorders, complex inherited forms of strabismus in both children and adults (e.g. CFEOM, Duane syndrome), and pediatric retinal dystrophies. Dr. Doyle has published extensively on a number of genetic disorders over the past decade, holds several patents for novel therapeutic approaches to treat them, and has given many national and international talks about them. Dr. Doyle's main research focus is understanding the genetic causes and molecular mechanisms driving genetic diseases, and utilizing that knowledge to develop new therapeutic strategies for them. Over the past decade, he has played a significant role in advancing our understanding of Marfan syndrome and related connective tissue disorders. His work and that of collaborators has led to the discovery of the genetic causes of Shprintzen-Goldberg syndrome and Loeys-Dietz like syndrome. His work has also led to a much better understanding of the molecular mechanisms driving Marfan syndrome, and he holds two patents for novel therapeutic strategies to treat it. Part of his current work focuses on the identification of genes that protect people from developing a number of genetic disorders, and leveraging that knowledge to develop new therapies for those diseases. He also has an interest in pediatric myopia, and has ongoing pre-clinical studies seeking to understand the mechanisms that may drive it and the development of novel therapeutic strategies to treat it. Recent News Articles and Media Coverage A Center for Genetic Eye Disease, Wilmer Insider (Oct. 2021).
Dr. Doyle is rated as an Advanced provider by MediFind in the treatment of Duane-Radial Ray Syndrome. His top areas of expertise are Duane-Radial Ray Syndrome, Ehlers-Danlos Syndrome (EDS), Vascular Ehlers-Danlos Syndrome (VEDS), and Strabismus.
His clinical research consists of co-authoring 20 peer reviewed articles. MediFind looks at clinical research from the past 15 years. In particular, he has co-authored 1 article in the study of Duane-Radial Ray Syndrome.
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Accepted insurance plans:
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- INSURANCE PLAN
- MANAGED MEDICAID PLAN
- MEDICARE MAPD
- OTHER MEDICARE PART D
- PPO
- HMO
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- EPO
- HMO
- PPO
- INSURANCE PLAN
- MEDICARE PDP
- PPO
- HMO
- POS
- PPO
- EPO
- HMO
- PPO
- HMO
- INDEMNITY
- POS
- PPO
- HMO
- MANAGED MEDICAID PLAN
- MEDICARE MAPD
- MEDICARE-MEDICAID PLAN
- OTHER MEDICAID
- STATE MEDICAID
- INSURANCE PLAN
- MANAGED MEDICAID PLAN
- MEDICARE MAPD
- MEDICARE PDP
- MEDICARE SNP
- MEDICARE-MEDICAID PLAN
- OTHER MEDICARE PART D
- EPO
- HMO
- POS
- PPO
- EPO
- HMO
- INSURANCE PLAN
- MANAGED MEDICAID PLAN
- MEDICARE MAPD
- MEDICARE PDP
- MEDICARE SNP
- MEDICARE-MEDICAID PLAN
- OTHER MEDICARE
- OTHER MEDICARE PART D
Locations
1800 Orleans Street, Maumenee Lobby, Maumenee Lobby, Baltimore, MD 21287
Clinical Research
Clinical research consists of overseeing clinical studies of patients undergoing new treatments and therapies, and publishing articles in peer reviewed medical journals. Providers who actively participate in clinical research are generally at the forefront of the fields and aware of the most up-to-date advances in treatments for their patients.
Kennedy Krieger Institute
Dr. Jaqueline Weissman is an assistant professor in the Department of Neurology, Kennedy Krieger Institute, Department of Pediatrics Johns Hopkins Hospital and Institute of Genomic Medicine at Johns Hopkins Hospital. She is also director of the Center for Tuberous Sclerosis and Related Disorder at Kennedy Krieger Institute. She focuses on genetic and epigenetic causes of neurodevelopmental disorders - particularly intellectual disability - and how specific genetic and epigenetic changes lead to specific neuroanatomic, neurophysiologic and cognitive phenotypes. She is also interested in developing specific cognitive profiles in genetic syndromes as potential outcome measures for trials and to help localize deficits. Currently most of her research is centered around Kabuki Syndrome. Dr. Weissman received her B.A. with. Dr. Harris is rated as an Advanced provider by MediFind in the treatment of Duane-Radial Ray Syndrome. Her top areas of expertise are Borjeson-Forssman-Lehmann Syndrome, Coffin-Lowry Syndrome, Galactosialidosis, and Odontotrichomelic Syndrome.
Rubenstein Child Health Building
Dr. Harry “Hal” Dietz is a professor of pediatrics, an associate professor of medicine and an assistant professor of neurological surgery at the Johns Hopkins University School of Medicine. He is the Victor A. McKusick Professor of Genetics and also serves as the director of the William S. Smilow Center for Marfan Syndrome Research. Recognized as the world’s leading authority on Marfan syndrome, Dr. Dietz conducted genomic mapping and research on therapeutic agents for deficiencies in the genetic protein fibrillin, which is linked to Marfan syndrome. His research contributions have made diagnosis of the condition patient-specific and accurate. He has received more than 50 national and international awards and honors, including the Antoine Marfan Award from the National Marfan Foundation and the Art of Listening Award from the American Heart Association. Dr. Dietz is an ad hoc reviewer for 19 different organizations, including the American Journal of Cardiology, the Archives of Pediatric and Adolescent Medicine, and the Journal of Clinical Investigation. Over more than two decades, Dr. Dietz has mentored 75 predoctoral and postdoctoral researchers. He has authored 282 original publications in peer-reviewed journals, 25 textbook chapters, and 239 abstracts, and has also delivered more than 440 lectures on Marfan syndrome and related genetic disorders. Dr. Dietz completed his B.S. at Duke University and received his M.D. from the SUNY Upstate School of Medicine. He completed a pediatric residency and a cardiology fellowship at Johns Hopkins University before joining the faculty in 1992. Dr. Dietz is rated as an Advanced provider by MediFind in the treatment of Duane-Radial Ray Syndrome. His top areas of expertise are Caudal Duplication, Neu Laxova Syndrome, Early Infantile Epileptic Encephalopathy, and Cardiomyopathy Hypogonadism Metabolic Anomalies.
Center For Medical Genomics Office HGCC MDC
Nina Powell is a Pediatrics specialist and a Medical Genetics provider in Newark, Delaware. Dr. Powell is rated as an Advanced provider by MediFind in the treatment of Duane-Radial Ray Syndrome. Her top areas of expertise are Microcephaly, Chromosome 13q Deletion, Increased Head Circumference, and Perlman Syndrome.
Areas of Expertise
MediFind evaluates expertise by pulling from factors such as number of articles a doctor has published in medical journals, participation in clinical trials, speaking at industry conferences, prescribing and referral patterns, and strength of connections with other experts in their field.
Learn more about MediFind’s expert tiers
- Advanced
- Duane-Radial Ray SyndromeDr. Doyle isAdvanced. Learn about Duane-Radial Ray Syndrome.
- Ehlers-Danlos Syndrome (EDS)Dr. Doyle isAdvanced. Learn about Ehlers-Danlos Syndrome (EDS).
- Vascular Ehlers-Danlos Syndrome (VEDS)
- Experienced
- AmblyopiaDr. Doyle isExperienced. Learn about Amblyopia.
- Brown SyndromeDr. Doyle isExperienced. Learn about Brown Syndrome.
- Cone DystrophyDr. Doyle isExperienced. Learn about Cone Dystrophy.
- Cone Rod Dystrophy Amelogenesis Imperfecta
- Cone-Rod DystrophyDr. Doyle isExperienced. Learn about Cone-Rod Dystrophy.
- Doyne Honeycomb Retinal DystrophyDr. Doyle isExperienced. Learn about Doyne Honeycomb Retinal Dystrophy.